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14 Possible Causes for Mutation in the PRKDC Gene

  • Restless Legs Syndrome

    We found that mutations in TP53, PRKDC, SMG1 and a set of other genes ( Supplementary Table 8 ) are positively correlated with higher mutation rates.[doi.org] Distributions of mutations in individual cancer genomes We studied the spectrum of mutations observed across tumours, in relation to the overall mutation rate and to clinical[doi.org] Of particular interest, four of the six most highly mutated tumours have mutations in PRKDC, which encodes a protein involved in the repair of double-stranded DNA breaks 44[doi.org]

  • Pleomorphic Xanthoastrocytoma

    mutations.[readbyqxmd.com] We found that BRAF V600E (5/13; 38%), FANCA/D2/I/M (5/13; 38%), PRKDC (4/13; 31%), NF1 (3/13; 23%), and NOTCH2/3/4 (3/13; 23%) alterations were the most frequent somatic gene[readbyqxmd.com]

  • Multiple Myeloma

    […] and CDKN1A, together with CDC25A, CHEK2 and PRKDC genes, in the most affected case (PCL-030).[doi.org] No concurrent mutations in ATR and TP53 were evidenced.[doi.org] Additionally, TP53 gene was frequently found altered in association with at least one another gene of this pathway: ATM (PCL-017), CDKN1A and RPS6KA1 (PCL-027), or both ATM[doi.org]

  • Burkitt Lymphoma

    In addition to the previously reported genes, a set of new genes mutated in BL, including TFAP4, MSH6, PRRC2C, BCL7A, FOXO1, PLCG2, PRKDC, RAD50 , and RPRD2, were identified[ncbi.nlm.nih.gov] Third, common mutations were observed significantly less frequently in eBL tumors harboring EBV type 1, with mutation frequencies similar between tumors with EBV type 2 and[ncbi.nlm.nih.gov]

  • X-Linked Severe Combined Immunodeficiency

    (T9185C L3062R) of the coding gene PRKDC (OMIM 600899).[doi.org] It was known since many years that mutations of PRKDC (Protein kinase, DNA-activated, catalytic polypeptide) gene cause the naturally occurring SCID in mice, Arabian foals[doi.org] SCID when she was 5-month-old, has been identified the first human case of DNA-PKcs (DNA-dependent Protein Kinase catalytic subunit) defect, due to a homozygous missense mutation[doi.org]

  • Plasma Cell Leukemia

    […] and CDKN1A, together with CDC25A, CHEK2 and PRKDC genes, in the most affected case (PCL-030).[doi.org] No concurrent mutations in ATR and TP53 were evidenced.[doi.org] Additionally, TP53 gene was frequently found altered in association with at least one another gene of this pathway: ATM (PCL-017), CDKN1A and RPS6KA1 (PCL-027), or both ATM[doi.org]

  • LIG4 Syndrome

    Immunodeficiency 26 (also known as DNA-PKcs deficiency) is caused by homozygous or compound heterozygous mutation in the PRKDC gene.[bredagenetics.com]

  • Cernunnos-XLF Deficiency

    Table 3 Gene Defects Associated With SCID and T-cell Lymphopenia Disease Gene defect Typical SCID ADA, CD3D, CDZ, CD3E, IL2RG, DCLRE1C, IL7RA, JAK3, PTPRC, RAG1, RAG2, PRKDC[aacc.org] mutations in ADA, PTPRC, IL2RG, DCLRE1C, IL7RA, JAK3, LIG4, RAG1, RAG2, other genes Cartilage hair hypoplasia (CHH) RMRP Folate metabolism and cobalamin deficiencies MTHFD1[aacc.org] , other genes Reticular dysgenesis AK2 Coronin-1A deficiency CORO1A Complete DiGeorge syndrome 22q1.2 deletion, other defects Leaky SCID/Omenn syndrome Partial-loss-of-function[aacc.org]

  • Combined Immunodeficiency due to CD3-Gamma Deficiency

    Table 3 Gene Defects Associated With SCID and T-cell Lymphopenia Disease Gene defect Typical SCID ADA, CD3D, CDZ, CD3E, IL2RG, DCLRE1C, IL7RA, JAK3, PTPRC, RAG1, RAG2, PRKDC[aacc.org] mutations in ADA, PTPRC, IL2RG, DCLRE1C, IL7RA, JAK3, LIG4, RAG1, RAG2, other genes Cartilage hair hypoplasia (CHH) RMRP Folate metabolism and cobalamin deficiencies MTHFD1[aacc.org] , other genes Reticular dysgenesis AK2 Coronin-1A deficiency CORO1A Complete DiGeorge syndrome 22q1.2 deletion, other defects Leaky SCID/Omenn syndrome Partial-loss-of-function[aacc.org]

  • Reticular Dysgenesis

    Table 3 Gene Defects Associated With SCID and T-cell Lymphopenia Disease Gene defect Typical SCID ADA, CD3D, CDZ, CD3E, IL2RG, DCLRE1C, IL7RA, JAK3, PTPRC, RAG1, RAG2, PRKDC[aacc.org] mutations in ADA, PTPRC, IL2RG, DCLRE1C, IL7RA, JAK3, LIG4, RAG1, RAG2, other genes Cartilage hair hypoplasia (CHH) RMRP Folate metabolism and cobalamin deficiencies MTHFD1[aacc.org] , other genes Reticular dysgenesis AK2 Coronin-1A deficiency CORO1A Complete DiGeorge syndrome 22q1.2 deletion, other defects Leaky SCID/Omenn syndrome Partial-loss-of-function[aacc.org]

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